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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs374797723

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:100420665 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000011 (3/264690, TOPMED)
T=0.000008 (2/249312, GnomAD_exome)
T=0.000007 (1/140262, GnomAD) (+ 3 more)
T=0.000008 (1/120698, ExAC)
T=0.00007 (1/14050, ALFA)
T=0.00008 (1/12078, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZCWPW1 : Non Coding Transcript Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 C=0.99993 T=0.00007
European Sub 9690 C=1.0000 T=0.0000
African Sub 2898 C=0.9997 T=0.0003
African Others Sub 114 C=1.000 T=0.000
African American Sub 2784 C=0.9996 T=0.0004
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 496 C=1.000 T=0.000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999989 T=0.000011
gnomAD - Exomes Global Study-wide 249312 C=0.999992 T=0.000008
gnomAD - Exomes European Sub 134616 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 48570 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34514 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 15482 C=0.99994 T=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10072 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6058 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140262 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75950 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42052 C=0.99998 T=0.00002
gnomAD - Genomes American Sub 13652 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 C=1.0000 T=0.0000
ExAC Global Study-wide 120698 C=0.999992 T=0.000008
ExAC Europe Sub 73316 C=1.00000 T=0.00000
ExAC Asian Sub 25122 C=1.00000 T=0.00000
ExAC American Sub 11570 C=1.00000 T=0.00000
ExAC African Sub 9792 C=0.9999 T=0.0001
ExAC Other Sub 898 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 14050 C=0.99993 T=0.00007
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=0.9997 T=0.0003
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 12078 C=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8264 C=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 3814 C=0.9997 T=0.0003
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 7 NC_000007.14:g.100420665C>A
GRCh38.p14 chr 7 NC_000007.14:g.100420665C>T
GRCh37.p13 chr 7 NC_000007.13:g.100018288C>A
GRCh37.p13 chr 7 NC_000007.13:g.100018288C>T
Gene: ZCWPW1, zinc finger CW-type and PWWP domain containing 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZCWPW1 transcript variant 23 NM_001388066.1:c.-301+436…

NM_001388066.1:c.-301+4365G>T

N/A Intron Variant
ZCWPW1 transcript variant 10 NM_001386016.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 14 NM_001386020.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 6 NM_001386011.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 12 NM_001386018.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 8 NM_001386013.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 13 NM_001386019.1:c.-150= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 15 NM_001386021.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 4 NM_001386009.1:c.-150= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 11 NM_001386017.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 7 NM_001386012.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 1 NM_017984.6:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 9 NM_001386015.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 17 NM_001386023.1:c.-134= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 5 NM_001386010.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 3 NM_001386008.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 16 NM_001386022.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 2 NM_001258008.3:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 22 NR_169832.1:n.257G>T N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 22 NR_169832.1:n.257G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 18 NR_169828.1:n. N/A Intron Variant
ZCWPW1 transcript variant 19 NR_169829.1:n. N/A Intron Variant
ZCWPW1 transcript variant 20 NR_169830.1:n. N/A Intron Variant
ZCWPW1 transcript variant 21 NR_169831.1:n. N/A Intron Variant
ZCWPW1 transcript variant 24 NR_169834.1:n. N/A Intron Variant
ZCWPW1 transcript variant 25 NR_169835.1:n. N/A Intron Variant
ZCWPW1 transcript variant 26 NR_169836.1:n. N/A Intron Variant
ZCWPW1 transcript variant 27 NR_169837.1:n. N/A Intron Variant
ZCWPW1 transcript variant 28 NR_169838.1:n. N/A Intron Variant
ZCWPW1 transcript variant 29 NR_169839.1:n. N/A Intron Variant
ZCWPW1 transcript variant X12 XM_047420554.1:c.-249+436…

XM_047420554.1:c.-249+4365G>T

N/A Intron Variant
ZCWPW1 transcript variant X1 XM_006716036.4:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X2 XM_006716035.5:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X3 XM_047420551.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X4 XM_006716038.5:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X5 XM_047420552.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X6 XM_006716040.5:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X7 XM_047420553.1:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X8 XM_024446815.2:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X9 XM_005250480.4:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X10 XM_017012379.3:c.-16= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X11 XM_024446817.2:c.-16= N/A 5 Prime UTR Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A T
GRCh38.p14 chr 7 NC_000007.14:g.100420665= NC_000007.14:g.100420665C>A NC_000007.14:g.100420665C>T
GRCh37.p13 chr 7 NC_000007.13:g.100018288= NC_000007.13:g.100018288C>A NC_000007.13:g.100018288C>T
ZCWPW1 transcript variant 1 NM_017984.6:c.-16= NM_017984.6:c.-16G>T NM_017984.6:c.-16G>A
ZCWPW1 transcript variant 1 NM_017984.5:c.-16= NM_017984.5:c.-16G>T NM_017984.5:c.-16G>A
ZCWPW1 transcript variant 1 NM_017984.4:c.-16= NM_017984.4:c.-16G>T NM_017984.4:c.-16G>A
ZCWPW1 transcript variant X2 XM_006716035.5:c.-16= XM_006716035.5:c.-16G>T XM_006716035.5:c.-16G>A
ZCWPW1 transcript variant X1 XM_006716035.4:c.-16= XM_006716035.4:c.-16G>T XM_006716035.4:c.-16G>A
ZCWPW1 transcript variant X1 XM_006716035.3:c.-16= XM_006716035.3:c.-16G>T XM_006716035.3:c.-16G>A
ZCWPW1 transcript variant X1 XM_006716035.2:c.-16= XM_006716035.2:c.-16G>T XM_006716035.2:c.-16G>A
ZCWPW1 transcript variant X9 XM_006716035.1:c.-16= XM_006716035.1:c.-16G>T XM_006716035.1:c.-16G>A
ZCWPW1 transcript variant X4 XM_006716038.5:c.-16= XM_006716038.5:c.-16G>T XM_006716038.5:c.-16G>A
ZCWPW1 transcript variant X4 XM_006716038.4:c.-16= XM_006716038.4:c.-16G>T XM_006716038.4:c.-16G>A
ZCWPW1 transcript variant X4 XM_006716038.3:c.-16= XM_006716038.3:c.-16G>T XM_006716038.3:c.-16G>A
ZCWPW1 transcript variant X4 XM_006716038.2:c.-16= XM_006716038.2:c.-16G>T XM_006716038.2:c.-16G>A
ZCWPW1 transcript variant X12 XM_006716038.1:c.-16= XM_006716038.1:c.-16G>T XM_006716038.1:c.-16G>A
ZCWPW1 transcript variant X6 XM_006716040.5:c.-16= XM_006716040.5:c.-16G>T XM_006716040.5:c.-16G>A
ZCWPW1 transcript variant X5 XM_006716040.4:c.-16= XM_006716040.4:c.-16G>T XM_006716040.4:c.-16G>A
ZCWPW1 transcript variant X5 XM_006716040.3:c.-16= XM_006716040.3:c.-16G>T XM_006716040.3:c.-16G>A
ZCWPW1 transcript variant X5 XM_006716040.2:c.-16= XM_006716040.2:c.-16G>T XM_006716040.2:c.-16G>A
ZCWPW1 transcript variant X14 XM_006716040.1:c.-16= XM_006716040.1:c.-16G>T XM_006716040.1:c.-16G>A
ZCWPW1 transcript variant X1 XM_006716036.4:c.-16= XM_006716036.4:c.-16G>T XM_006716036.4:c.-16G>A
ZCWPW1 transcript variant X2 XM_006716036.3:c.-16= XM_006716036.3:c.-16G>T XM_006716036.3:c.-16G>A
ZCWPW1 transcript variant X2 XM_006716036.2:c.-16= XM_006716036.2:c.-16G>T XM_006716036.2:c.-16G>A
ZCWPW1 transcript variant X10 XM_006716036.1:c.-16= XM_006716036.1:c.-16G>T XM_006716036.1:c.-16G>A
ZCWPW1 transcript variant X9 XM_005250480.4:c.-16= XM_005250480.4:c.-16G>T XM_005250480.4:c.-16G>A
ZCWPW1 transcript variant X9 XM_005250480.3:c.-16= XM_005250480.3:c.-16G>T XM_005250480.3:c.-16G>A
ZCWPW1 transcript variant X7 XM_005250480.2:c.-16= XM_005250480.2:c.-16G>T XM_005250480.2:c.-16G>A
ZCWPW1 transcript variant X7 XM_005250480.1:c.-16= XM_005250480.1:c.-16G>T XM_005250480.1:c.-16G>A
ZCWPW1 transcript variant 2 NM_001258008.3:c.-16= NM_001258008.3:c.-16G>T NM_001258008.3:c.-16G>A
ZCWPW1 transcript variant 2 NM_001258008.2:c.-16= NM_001258008.2:c.-16G>T NM_001258008.2:c.-16G>A
ZCWPW1 transcript variant 2 NM_001258008.1:c.-16= NM_001258008.1:c.-16G>T NM_001258008.1:c.-16G>A
ZCWPW1 transcript variant X10 XM_017012379.3:c.-16= XM_017012379.3:c.-16G>T XM_017012379.3:c.-16G>A
ZCWPW1 transcript variant X10 XM_017012379.2:c.-16= XM_017012379.2:c.-16G>T XM_017012379.2:c.-16G>A
ZCWPW1 transcript variant X8 XM_017012379.1:c.-16= XM_017012379.1:c.-16G>T XM_017012379.1:c.-16G>A
ZCWPW1 transcript variant X8 XM_024446815.2:c.-16= XM_024446815.2:c.-16G>T XM_024446815.2:c.-16G>A
ZCWPW1 transcript variant X6 XM_024446815.1:c.-16= XM_024446815.1:c.-16G>T XM_024446815.1:c.-16G>A
ZCWPW1 transcript variant X11 XM_024446817.2:c.-16= XM_024446817.2:c.-16G>T XM_024446817.2:c.-16G>A
ZCWPW1 transcript variant X12 XM_024446817.1:c.-16= XM_024446817.1:c.-16G>T XM_024446817.1:c.-16G>A
ZCWPW1 transcript variant 11 NM_001386017.1:c.-16= NM_001386017.1:c.-16G>T NM_001386017.1:c.-16G>A
ZCWPW1 transcript variant X3 XM_047420551.1:c.-16= XM_047420551.1:c.-16G>T XM_047420551.1:c.-16G>A
ZCWPW1 transcript variant X5 XM_047420552.1:c.-16= XM_047420552.1:c.-16G>T XM_047420552.1:c.-16G>A
ZCWPW1 transcript variant 5 NM_001386010.1:c.-16= NM_001386010.1:c.-16G>T NM_001386010.1:c.-16G>A
ZCWPW1 transcript variant 10 NM_001386016.1:c.-16= NM_001386016.1:c.-16G>T NM_001386016.1:c.-16G>A
ZCWPW1 transcript variant X7 XM_047420553.1:c.-16= XM_047420553.1:c.-16G>T XM_047420553.1:c.-16G>A
ZCWPW1 transcript variant 12 NM_001386018.1:c.-16= NM_001386018.1:c.-16G>T NM_001386018.1:c.-16G>A
ZCWPW1 transcript variant 14 NM_001386020.1:c.-16= NM_001386020.1:c.-16G>T NM_001386020.1:c.-16G>A
ZCWPW1 transcript variant 8 NM_001386013.1:c.-16= NM_001386013.1:c.-16G>T NM_001386013.1:c.-16G>A
ZCWPW1 transcript variant 13 NM_001386019.1:c.-150= NM_001386019.1:c.-150G>T NM_001386019.1:c.-150G>A
ZCWPW1 transcript variant 16 NM_001386022.1:c.-16= NM_001386022.1:c.-16G>T NM_001386022.1:c.-16G>A
ZCWPW1 transcript variant 17 NM_001386023.1:c.-134= NM_001386023.1:c.-134G>T NM_001386023.1:c.-134G>A
ZCWPW1 transcript variant 4 NM_001386009.1:c.-150= NM_001386009.1:c.-150G>T NM_001386009.1:c.-150G>A
ZCWPW1 transcript variant 7 NM_001386012.1:c.-16= NM_001386012.1:c.-16G>T NM_001386012.1:c.-16G>A
ZCWPW1 transcript variant 22 NR_169832.1:n.257= NR_169832.1:n.257G>T NR_169832.1:n.257G>A
ZCWPW1 transcript variant 9 NM_001386015.1:c.-16= NM_001386015.1:c.-16G>T NM_001386015.1:c.-16G>A
ZCWPW1 transcript variant 6 NM_001386011.1:c.-16= NM_001386011.1:c.-16G>T NM_001386011.1:c.-16G>A
ZCWPW1 transcript variant 15 NM_001386021.1:c.-16= NM_001386021.1:c.-16G>T NM_001386021.1:c.-16G>A
ZCWPW1 transcript variant 3 NM_001386008.1:c.-16= NM_001386008.1:c.-16G>T NM_001386008.1:c.-16G>A
ZCWPW1 transcript variant 23 NM_001388066.1:c.-301+4365= NM_001388066.1:c.-301+4365G>T NM_001388066.1:c.-301+4365G>A
ZCWPW1 transcript variant X12 XM_047420554.1:c.-249+4365= XM_047420554.1:c.-249+4365G>T XM_047420554.1:c.-249+4365G>A
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

8 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712787468 Apr 25, 2013 (138)
2 EVA_EXAC ss1688852821 Apr 01, 2015 (144)
3 HUMAN_LONGEVITY ss2296228339 Dec 20, 2016 (150)
4 GNOMAD ss2736616292 Nov 08, 2017 (151)
5 EVA ss3824298837 Apr 26, 2020 (154)
6 GNOMAD ss4169489453 Apr 26, 2021 (155)
7 TOPMED ss4756747415 Apr 26, 2021 (155)
8 EVA ss5375528551 Oct 16, 2022 (156)
9 ExAC NC_000007.13 - 100018288 Oct 12, 2018 (152)
10 gnomAD - Genomes NC_000007.14 - 100420665 Apr 26, 2021 (155)
11 gnomAD - Exomes NC_000007.13 - 100018288 Jul 13, 2019 (153)
12 GO Exome Sequencing Project NC_000007.13 - 100018288 Oct 12, 2018 (152)
13 TopMed NC_000007.14 - 100420665 Apr 26, 2021 (155)
14 ALFA NC_000007.14 - 100420665 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5375528551 NC_000007.13:100018287:C:A NC_000007.14:100420664:C:A
8927632, 5781555, 756780, ss712787468, ss1688852821, ss2736616292, ss3824298837 NC_000007.13:100018287:C:T NC_000007.14:100420664:C:T (self)
270793338, 594124974, 9537917741, ss2296228339, ss4169489453, ss4756747415 NC_000007.14:100420664:C:T NC_000007.14:100420664:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs374797723

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07